title: Mucopolysaccharidosis (Hunter's syndrome) in a black family.
abstract: A black patient who presented with the clinical features of a mucopolysaccharidosis is described. Biochemical investigations showed that the proband had type II B mucopolysaccharidosis (Hunter's syndrome), and a family study revealed that a further 2 males were affected. This suggested that the inheritance was hemizygous for the X-linked gene and that the mother was the obligate carrier. Documented cases of mucopolysaccharidosis among Blacks are uncommon in the literature.
mesh_terms: D000293:Adolescent; D000328:Adult; D044383:Black People; D005260:Female; D006801:Humans; D008297:Male; D016532:Mucopolysaccharidosis II / Q000175:diagnosis / Q000235:genetics*; D013019:South Africa